Zobrazeno 1 - 10
of 469
pro vyhledávání: '"Kandai Nozu"'
Autor:
Naoko Nakatani, Akihiro Tamura, Hiroaki Hanafusa, Nanako Nino, Nobuyuki Yamamoto, Hiroyuki Awano, Yasuhiro Tanaka, Naoya Morisada, Suguru Uemura, Atsuro Saito, Daiichiro Hasegawa, Kandai Nozu, Yoshiyuki Kosaka
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Abstract Recently, heterozygous loss-of-function NFKB1 variants were identified as the primary cause of common variable immunodeficiency (CVID) in the European population. However, pathogenic NFKB1 variants have never been reported in the Japanese po
Externí odkaz:
https://doaj.org/article/1a90bc74bc534caf9964134c488fb6fd
Autor:
Yuki Kyono, Masahiro Nishiyama, Aoi Kawamura, Shizuka Oikawa, Shoichi Tokumoto, Hiroshi Yamaguchi, Kazumi Tomioka, Kandai Nozu, Hiroki Mishina, Hiroaki Nagase
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-8 (2024)
Abstract Although the causes of neurodevelopmental disorders remain unknown, several environmental risk factors have attracted considerable attention. We conducted a retrospective, longitudinal, population-based cohort study using data from infant he
Externí odkaz:
https://doaj.org/article/98be80d22dbc4e43a13446293989be94
Autor:
Hiroaki Hanafusa, Hiroshi Yamaguchi, Naoya Morisada, Ming Juan YE, Riki Matsumoto, Hiroaki Nagase, Kandai Nozu
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-3 (2024)
Abstract Autosomal dominant polycystic kidney disease (ADPKD) is commonly caused by PKD1, and mosaic PKD1 variants result in milder phenotypes. We present the case of a 32 year-old male with chronic active Epstein–Barr virus who underwent bone marr
Externí odkaz:
https://doaj.org/article/40fae847fbc140e1944c6d8d4bcb8911
Autor:
Tomohiro Sameshima, Mariko Ashina, Takuya Fukuda, Takumi Kido, Shinya Abe, Yuko Watanabe, Itsuko Sato, Yoshihiko Yano, Kenji Tanimura, Hiroaki Nagase, Kandai Nozu, Kazumichi Fujioka
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-6 (2024)
Abstract Protein induced by vitamin K absence or antagonist-II (PIVKA-II) is avitamin K (VK) deficiency indicator in neonates. However, PIVKA-II detection frequency in neonatal blood at birth and the correlation between PIVKA-II and gestational age a
Externí odkaz:
https://doaj.org/article/8b817298d8af4269a07dc539db8d5db4
Autor:
Hideki Uedono, Katsuhito Mori, Shinya Nakatani, Kohei Watanabe, Rino Nakaya, Fumiyuki Morioka, Kazuma Sone, Chie Ono, Junko Hotta, Akihiro Tsuda, Naoya Morisada, Toshiyuki Seto, Kandai Nozu, Masanori Emoto
Publikováno v:
Case Reports in Nephrology and Dialysis, Vol 14, Iss 1, Pp 1-9 (2024)
Introduction: Alport syndrome (AS) is a hereditary, progressive kidney disease characterized by structural abnormalities and dysfunction of the glomerular basement membrane (GBM). AS is classified as X-linked, autosomal, and digenic. The number of ca
Externí odkaz:
https://doaj.org/article/f5a7078a2df046aa9981ea1649ec053c
Autor:
Masahiro Nishiyama, Yuki Kyono, Hiroshi Yamaguchi, Aoi Kawamura, Shizuka Oikawa, Shoichi Tokumoto, Kazumi Tomioka, Kandai Nozu, Hiroaki Nagase
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract This study investigated the relationship between sleep habits in early childhood and academic performance and non-cognitive skills in the first grade. We retrospectively analyzed a longitudinal population-based cohort from birth through earl
Externí odkaz:
https://doaj.org/article/d4b3aeadf8264176b42af81ffb0a5d91
Autor:
Ryuichiro Hirayama, Kosuke Toyohara, Kei Watanabe, Takeya Otsuki, Toshikazu Araoka, Shin-Ichi Mae, Tomoko Horinouchi, Tomohiko Yamamura, Keisuke Okita, Akitsu Hotta, Kazumoto Iijima, Kandai Nozu, Kenji Osafune
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-11 (2023)
Abstract Alport syndrome (AS) is a hereditary glomerulonephritis caused by COL4A3, COL4A4 or COL4A5 gene mutations and characterized by abnormalities of glomerular basement membranes (GBMs). Due to a lack of curative treatments, the condition proceed
Externí odkaz:
https://doaj.org/article/d35615f2c8824439a7a88aa52196dc4a
Autor:
Naoko Nakatani, Kaung Htet Nay Win, Cho Yee Mon, Tomoko Fujikawa, Suguru Uemura, Atsuro Saito, Toshiaki Ishida, Takeshi Mori, Daiichiro Hasegawa, Yoshiyuki Kosaka, Shotaro Inoue, Akihiro Nishimura, Nanako Nino, Akihiro Tamura, Nobuyuki Yamamoto, Kandai Nozu, Noriyuki Nishimura
Publikováno v:
Biology, Vol 13, Iss 5, p 345 (2024)
Non-high-risk (non-HR) neuroblastoma (NB) patients have excellent outcomes, with more than a 90% survival rate, whereas HR NB patients expect less than a 50% survival rate. Metastatic disease is the principal cause of death among both non-HR and HR N
Externí odkaz:
https://doaj.org/article/4f520bdc7b0e4e60a8476e9f07f04f08
Autor:
Hiroko Ueda, Quynh Thuy Huong Tran, Linh Nguyen Truc Tran, Koichiro Higasa, Yoshiki Ikeda, Naoyuki Kondo, Masaki Hashiyada, Chika Sato, Yoshinori Sato, Akira Ashida, Saori Nishio, Yasunori Iwata, Hiroyuki Iida, Daisuke Matsuoka, Yoshihiko Hidaka, Kenji Fukui, Suzu Itami, Norihito Kawashita, Keisuke Sugimoto, Kandai Nozu, Motoshi Hattori, Hiroyasu Tsukaguchi
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-25 (2023)
Abstract Focal segmental glomerulosclerosis (FSGS) is a common glomerular injury leading to end-stage renal disease. Monogenic FSGS is primarily ascribed to decreased podocyte integrity. Variants between residues 184 and 245 of INF2, an actin assembl
Externí odkaz:
https://doaj.org/article/94c4d236e2f54f2e8871e16fe0cc36df
Autor:
Yoshinori Nambu, Taku Shirakawa, Kayo Osawa, Hisahide Nishio, Kandai Nozu, Masafumi Matsuo, Hiroyuki Awano
Publikováno v:
SAGE Open Medical Case Reports, Vol 12 (2024)
Becker muscular dystrophy is caused by DMD mutations and is characterized by progressive muscle atrophy. The wide variations observed in muscle atrophy progression in Becker muscular dystrophy are considered multifactorial, including differences in m
Externí odkaz:
https://doaj.org/article/c26b9481fcfd47f79e0c23171a9f9623